Variant report

Variant	rs4143368
Chromosome Location	chr21:46358857-46358858
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:46358666-46359305	K562	blood:	n/a	n/a
2	POLR2A	chr21:46358524-46360361	GM18505	blood:	n/a	n/a
3	POLR2A	chr21:46358166-46360480	SK-N-MC	brain:	n/a	n/a
4	JUN	chr21:46358206-46361110	K562	blood:	n/a	chr21:46358894-46358905
5	POLR2A	chr21:46358504-46360381	GM12878	blood:	n/a	n/a
6	POLR2A	chr21:46358401-46360539	K562	blood:	n/a	n/a
7	POLR2A	chr21:46358387-46359201	K562	blood:	n/a	n/a
8	POLR2A	chr21:46358394-46360437	GM19099	blood:	n/a	n/a
9	POLR2A	chr21:46358340-46360742	GM12891	blood:	n/a	n/a
10	POLR2A	chr21:46358692-46360738	K562	blood:	n/a	n/a
11	POLR2A	chr21:46358328-46360266	GM12878	blood:	n/a	n/a
12	POLR2A	chr21:46358415-46360873	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr21:46358658-46358879	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr21:46358595-46360600	HepG2	liver:	n/a	n/a
15	POLR2A	chr21:46356473-46360821	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr21:46358796-46358857	GM12878	blood:	n/a	n/a
17	POLR2A	chr21:46358769-46359891	K562	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46358120..46360078-chr21:46493208..46495098,2	MCF-7	breast:
2	chr21:46348854..46378176-chr21:46489799..46500436,75	K562	blood:
3	chr21:46235785..46239443-chr21:46357143..46362674,8	MCF-7	breast:
4	chr21:46291916..46297365-chr21:46358001..46363812,14	MCF-7	breast:
5	chr21:46358715..46360802-chr21:46377914..46380232,3	K562	blood:
6	chr21:46358799..46362946-chr21:46546409..46551680,5	K562	blood:
7	chr21:46353923..46356909-chr21:46357554..46361249,6	K562	blood:
8	chr21:46348891..46351856-chr21:46356275..46360285,3	K562	blood:
9	chr21:46236285..46239693-chr21:46357237..46360614,5	K562	blood:
10	chr21:46357049..46359694-chr21:46468700..46471270,2	K562	blood:
11	chr21:46355061..46362857-chr21:46490375..46496482,13	K562	blood:
12	chr21:46236918..46239386-chr21:46357793..46361272,3	K562	blood:
13	chr21:46357121..46360685-chr21:46377277..46380905,4	MCF-7	breast:
14	chr21:46218606..46224662-chr21:46357422..46363606,13	MCF-7	breast:
15	chr21:46220260..46222802-chr21:46358731..46365262,8	MCF-7	breast:

No data

Variant related genes	Relation type
FAM207A	TF binding region
ENSG00000197381	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000272825	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000184900	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11701378	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11701457	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11702593	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1985483	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];0.92[JPT][hapmap];0.93[MEX][hapmap];0.82[TSI][hapmap]
rs2005951	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2012438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap]
rs2294166	0.93[ASN][1000 genomes]
rs2294168	0.93[ASN][1000 genomes]
rs2294170	0.87[ASN][1000 genomes]
rs2838742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838743	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838745	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838751	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[MEX][hapmap]
rs28399723	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28461900	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4818743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4818748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4818749	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4818990	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4818993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55716911	0.85[ASN][1000 genomes]
rs55859454	0.81[ASN][1000 genomes]
rs56213773	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62214491	0.87[ASN][1000 genomes]
rs62214513	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs914205	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv933240	chr21:46305956-46371518	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv913974	chr21:46306161-46430792	Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv913975	chr21:46306161-46459432	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
10	nsv1064518	chr21:46317690-46413159	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv913977	chr21:46335761-46454391	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv913978	chr21:46335761-46466674	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv913979	chr21:46335761-46472929	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv913980	chr21:46337565-46454391	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv913981	chr21:46344426-46408790	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv913982	chr21:46344426-46430792	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv913984	chr21:46344426-46435610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	nsv913983	chr21:46344426-46440385	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	nsv913985	chr21:46344426-46448142	Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv913986	chr21:46344426-46466674	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
21	nsv913987	chr21:46344426-46472929	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
22	nsv913988	chr21:46356816-46408790	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
23	nsv913989	chr21:46356816-46430792	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
24	nsv913990	chr21:46356816-46448142	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
25	nsv913991	chr21:46356816-46472929	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46353000-46359000	Weak transcription	Brain Anterior Caudate	brain
2	chr21:46353000-46359000	Weak transcription	Right Atrium	heart
3	chr21:46353200-46359000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr21:46353200-46359000	Weak transcription	HUVEC	blood vessel
5	chr21:46353200-46359200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr21:46353400-46359000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr21:46353400-46359200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr21:46353600-46359000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr21:46353600-46359200	Weak transcription	Primary T cells from cord blood	blood
10	chr21:46353800-46359000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr21:46353800-46359000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr21:46353800-46359000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr21:46353800-46359000	Weak transcription	HSMMtube	muscle
14	chr21:46354000-46359400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr21:46354200-46359000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr21:46355200-46359000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr21:46355800-46359000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr21:46356200-46359000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:46357400-46359000	Weak transcription	Fetal Heart	heart
20	chr21:46358200-46359000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr21:46358400-46359000	Enhancers	Fetal Brain Female	brain
22	chr21:46358600-46359000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr21:46358600-46359000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr21:46358600-46359000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr21:46358600-46359000	Enhancers	Liver	Liver
26	chr21:46358600-46359000	Enhancers	Fetal Lung	lung
27	chr21:46358600-46359000	Active TSS	Stomach Smooth Muscle	stomach
28	chr21:46358600-46359000	Enhancers	Thymus	Thymus
29	chr21:46358600-46359200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr21:46358600-46359200	Enhancers	Brain Substantia Nigra	brain
31	chr21:46358600-46359200	Enhancers	Stomach Mucosa	stomach
32	chr21:46358600-46359400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr21:46358600-46359600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr21:46358600-46359600	Flanking Active TSS	Dnd41	blood
35	chr21:46358600-46359600	Flanking Active TSS	HMEC	breast
36	chr21:46358600-46359600	Flanking Active TSS	NHEK	skin
37	chr21:46358800-46359000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
38	chr21:46358800-46359000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr21:46358800-46359000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr21:46358800-46359000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr21:46358800-46359000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr21:46358800-46359000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr21:46358800-46359000	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr21:46358800-46359000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr21:46358800-46359000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr21:46358800-46359000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr21:46358800-46359000	Active TSS	Brain Angular Gyrus	brain
48	chr21:46358800-46359000	Enhancers	Brain Cingulate Gyrus	brain
49	chr21:46358800-46359000	Enhancers	Colonic Mucosa	Colon
50	chr21:46358800-46359000	Enhancers	Colon Smooth Muscle	Colon

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